DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

Disease gene discovery has been transformed by affordable sequencing of exomes and
genomes. Identification of disease‐causing mutations requires sifting through a large number of …

Background Whole-exome sequencing (WES) is rapidly evolving into a tool of choice for rapid,
and inexpensive identification of molecular genetic lesions within targeted regions of the …

As whole-genome sequencing becomes commoditized and we begin to sequence and
analyze personal genomes for clinical and diagnostic purposes, it is necessary to understand …

NMDA receptors (NMDARs), ligand-gated ion channels, play important roles in various
neurological disorders, including epilepsy. Here we show the functional analysis of a de novo …

Genetic studies of autism spectrum disorder (ASD) have established that de novo duplications
and deletions contribute to risk. However, ascertainment of structural variants (SVs) has …

Purpose REQUITE aimed to establish a resource for multi-national validation of models and
biomarkers that predict risk of late toxicity following radiotherapy. The purpose of this article …

Background and aim The excessive accumulation of lipid droplets (LDs) is a defining
characteristic of nonalcoholic fatty liver disease (NAFLD). The interaction between LDs and …

Genetic studies of Autism Spectrum Disorder (ASD) have established that de novo duplications
and deletions contribute to risk. However, ascertainment of structural variation (SV) has …

… 600 Dual Beam operating at 2–5 kV was used for morphology and chemical studies. Also,
a … was performed using an HRTEM FEI Tecnai F30 operated at 300 kV. X-ray diffraction (XRD) …